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Mass Spectrometry-Based Diagnosis of Hemoglobinopathies: A Potential Tool for the Screening of Genetic Disorder

Das, Rajdeep and Mitra, Gopa and Mathew, Boby and Bhat, Vijay and Ross, Cecil and Pal, Debnath and Mandal, Amit Kumar (2016) Mass Spectrometry-Based Diagnosis of Hemoglobinopathies: A Potential Tool for the Screening of Genetic Disorder. In: BIOCHEMICAL GENETICS, 54 (6). pp. 816-825.

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Official URL: http://dx.doi.org/10.1007/s10528-016-9758-5


Hemoglobinopathies are caused by point mutation in globin gene that results in structural variant of hemoglobin. While 7 % of world populations are carrier of hemoglobinopathies, the prevalence of the disease varies between 3 to 17 % across different population groups in India. In a diagnostic laboratory, alkaline gel electrophoresis and cation exchange-based HPLC (CE-HPLC) are most widely used techniques for characterization of hemoglobin variants. In the above methods, the differential surface charge of hemoglobin molecule in variants is exploited for their characterization. Sometime, co-migration of variants in gel electrophoresis and co-elution or elution with unknown retention time in automated CE-HPLC might lead to ambiguity in the analysis of hemoglobinopathies. Under such circumstances, it is necessary to use other analytical methods that provide unambiguous results. Mass spectrometry-based proteomics approach and DNA sequence analysis are examples of such alternative methods. In the present study, liquid chromatography coupled to mass spectrometry has been used for three commonly observed variants in India, e. g., HbE, HbQ India and HbD Punjab that appeared with inappropriate results in the conventional analysis. A customized hemoglobin variant database has been used in the mass spectrometry-based analysis of those three variants. Mass spectrometry-based proteomics approach was used to analyze above variant sample accurately.

Item Type: Journal Article
Additional Information: Copy right for this article belongs to the SPRINGER/PLENUM PUBLISHERS, 233 SPRING ST, NEW YORK, NY 10013 USA
Department/Centre: Division of Interdisciplinary Sciences > Supercomputer Education & Research Centre
Date Deposited: 07 Dec 2016 07:10
Last Modified: 07 Dec 2016 07:10
URI: http://eprints.iisc.ac.in/id/eprint/55524

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